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Article

AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.

International journal of molecular sciences - 4 Jan 2022

Pardo Beatriz, Herrada-Soler Eduardo, Satrústegui Jorgina, Contreras Laura, Del Arco Araceli

Abstract excerpt

AGC1/Aralar/Slc25a12 is the mitochondrial carrier of aspartate-glutamate, the regulatory component of the NADH malate-aspartate shuttle (MAS) that transfers cytosolic redox power to neuronal mitochondria. The deficiency in AGC1/Aralar leads to the human rare disease named "early infantile epileptic encephalopathy 39" (EIEE 39, OMIM # 612949) characterized by epilepsy, hypotonia, arrested psychomotor...

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Identifiers

PMID: 35008954
DOI: 10.3390/ijms23010528
PMCID: PMC8745132

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